Canonical Allele Identifier: CA024160

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52126
• ClinVar RCV Id: RCV000113608 ; RCV000129780 ; RCV000587939 ; RCV001085289
• dbSNP Id: rs80358887
• ExAC: 13:32915042 C / G
• gnomAD v2: 13-32915042-C-G
• gnomAD v3: 13-32340905-C-G
• gnomAD v4: 13-32340905-C-G
• MyVariant Identifiers: chr13:g.32915042C>G (hg19) ; chr13:g.32340905C>G (hg38)
• PubMed: PMID:10923033 ; PMID:20167696 ; PMID:25777348

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340905C>G , CM000675.2:g.32340905C>G	GRCh38
NC_000013.10:g.32915042C>G , CM000675.1:g.32915042C>G	GRCh37
NC_000013.9:g.31813042C>G	NCBI36
NG_012772.3:g.30426C>G , LRG_293:g.30426C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.6550C>G	ENSP00000434898.2:p.Gln2184Glu
ENST00000528762.2:c.6550C>G	ENSP00000433168.2:p.Gln2184Glu
ENST00000530893.7:c.6181C>G	ENSP00000499438.2:p.Gln2061Glu
ENST00000665585.2:c.6550C>G	ENSP00000499570.2:p.Gln2184Glu
ENST00000666593.2:c.6550C>G	ENSP00000499256.2:p.Gln2184Glu
ENST00000700202.2:c.6550C>G	ENSP00000514856.2:p.Gln2184Glu
ENST00000380152.8:c.6550C>G MANE Select	ENSP00000369497.3:p.Gln2184Glu
ENST00000544455.6:c.6550C>G	ENSP00000439902.1:p.Gln2184Glu
ENST00000614259.2:c.6550C>G	ENSP00000506251.1:p.Gln2184Glu
ENST00000680887.1:c.6550C>G	ENSP00000505508.1:p.Gln2184Glu
ENST00000380152.7:c.6550C>G	ENSP00000369497.3:p.Gln2184Glu
ENST00000544455.5:c.6550C>G	ENSP00000439902.1:p.Gln2184Glu
ENST00000614259.1:n.6550C>G
NM_000059.3:c.6550C>G , LRG_293t1:c.6550C>G	NP_000050.2:p.Gln2184Glu
XM_011535203.1:c.6550C>G	XP_011533505.1:p.Gln2184Glu
XM_011535204.1:c.6550C>G	XP_011533506.1:p.Gln2184Glu
XM_011535205.1:c.6550C>G	XP_011533507.1:p.Gln2184Glu
NM_000059.4:c.6550C>G MANE Select	NP_000050.3:p.Gln2184Glu